Canonical Allele Identifier: CA349568753
Community Standard Title: NM_001267550.2(TTN):c.83232T>A (p.Tyr27744Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562900A>T , CM000664.2:g.178562900A>T GRCh38
NC_000002.11:g.179427627A>T , CM000664.1:g.179427627A>T GRCh37
NC_000002.10:g.179135873A>T NCBI36
NG_011618.3:g.272903T>A , LRG_391:g.272903T>A
NG_051363.1:g.45074A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.83232T>A (TTN) MANE Select NP_001254479.2:p.Tyr27744Ter
ENST00000589042.5:c.83232T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr27744Ter
NM_001256850.1:c.78309T>A (TTN) NP_001243779.1:p.Tyr26103Ter
NM_003319.4:c.56037T>A (TTN) NP_003310.4:p.Tyr18679Ter
NM_133378.4:c.75528T>A (TTN) NP_596869.4:p.Tyr25176Ter
NM_133432.3:c.56412T>A (TTN) NP_597676.3:p.Tyr18804Ter
NM_133437.4:c.56613T>A (TTN) NP_597681.4:p.Tyr18871Ter
NR_038271.1:n.447-8400A>T (TTN-AS1)
NR_038272.1:n.2044-19672A>T (TTN-AS1)
ENST00000342175.10:c.56613T>A (TTN) ENSP00000340554.6:p.Tyr18871Ter
ENST00000342175.11:c.56613T>A (TTN) ENSP00000340554.6:p.Tyr18871Ter
ENST00000342992.10:c.75528T>A (TTN) ENSP00000343764.6:p.Tyr25176Ter
ENST00000342992.11:c.75528T>A (TTN) ENSP00000343764.6:p.Tyr25176Ter
ENST00000359218.10:c.56412T>A (TTN) ENSP00000352154.5:p.Tyr18804Ter
ENST00000359218.9:c.56412T>A (TTN) ENSP00000352154.5:p.Tyr18804Ter
ENST00000460472.6:c.56037T>A (TTN) ENSP00000434586.1:p.Tyr18679Ter
ENST00000591111.5:c.78309T>A (TTN) ENSP00000465570.1:p.Tyr26103Ter
ENST00000615779.4:c.78309T>A (TTN) ENSP00000483597.1:p.Tyr26103Ter
XM_011511729.1:c.82329T>A (TTN) XP_011510031.1:p.Tyr27443Ter
XM_011511730.1:c.56223T>A (TTN) XP_011510032.1:p.Tyr18741Ter
XM_011511731.1:c.56082T>A (TTN) XP_011510033.1:p.Tyr18694Ter
XM_017004819.1:c.82125T>A (TTN) XP_016860308.1:p.Tyr27375Ter
XM_017004820.1:c.77523T>A (TTN) XP_016860309.1:p.Tyr25841Ter
XM_017004821.1:c.77520T>A (TTN) XP_016860310.1:p.Tyr25840Ter
XM_017004822.1:c.74562T>A (TTN) XP_016860311.1:p.Tyr24854Ter
XM_017004823.1:c.56178T>A (TTN) XP_016860312.1:p.Tyr18726Ter
XM_024453094.1:c.77673T>A (TTN) XP_024308862.1:p.Tyr25891Ter
XM_024453095.1:c.77670T>A (TTN) XP_024308863.1:p.Tyr25890Ter
XM_024453096.1:c.77103T>A (TTN) XP_024308864.1:p.Tyr25701Ter
XM_024453097.1:c.74445T>A (TTN) XP_024308865.1:p.Tyr24815Ter
XM_024453098.1:c.74364T>A (TTN) XP_024308866.1:p.Tyr24788Ter
XM_024453099.1:c.56127T>A (TTN) XP_024308867.1:p.Tyr18709Ter
XM_024453100.1:c.45981T>A (TTN) XP_024308868.1:p.Tyr15327Ter